HACD1 (3-hydroxyacyl-CoA dehydratase 1)

2007-04-01 Affiliation

Identity

HGNC

HACD1

LOCATION

10p12.33

LOCUSID

9200

ALIAS

CAP,PTPLA

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9200
MIM: 610467
HGNC: 9639
Ensembl: ENSG00000165996

Variants:

dbSNP: 9200
ClinVar: 9200
TCGA: ENSG00000165996
COSMIC: HACD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000165996	ENST00000326961	A6NP58
ENSG00000165996	ENST00000361271	B0YJ81
ENSG00000165996	ENST00000466335	J3KS69
ENSG00000165996	ENST00000498812	J3KT94

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Fatty acid elongation	KEGG	ko00062
Biosynthesis of unsaturated fatty acids	KEGG	ko01040
Fatty acid elongation	KEGG	hsa00062
Biosynthesis of unsaturated fatty acids	KEGG	hsa01040
Fatty acid biosynthesis, elongation, endoplasmic reticulum	KEGG	hsa_M00415
Fatty acid biosynthesis, elongation, endoplasmic reticulum	KEGG	M00415
Fatty acid metabolism	KEGG	hsa01212
Fatty acid metabolism	KEGG	ko01212
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105
Synthesis of very long-chain fatty acyl-CoAs	REACTOME	R-HSA-75876

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
15829503	2005	SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.	52
19241460	2009	Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.	32
23933735	2013	Congenital myopathy is caused by mutation of HACD1.	14
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
20724468	2010	Characterization of HACD1 K64Q mutant found in arrhythmogenic right ventricular dysplasia patients.	7
23071563	2012	Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide.	7
22067203	2012	Isolation of protein-tyrosine phosphatase-like member-a variant from cementum.	4
27939133	2017	Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.	3

Citation

Dessen P

HACD1 (3-hydroxyacyl-CoA dehydratase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46754/hacd1